Canonical Allele Identifier: CA707374599
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1464999993
gnomAD v4: 14-60649499-G-T
MyVariant Identifiers: chr14:g.61116217G>T (hg19) chr14:g.60649499G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649499G>T , CM000676.2:g.60649499G>T GRCh38
NC_000014.8:g.61116217G>T , CM000676.1:g.61116217G>T GRCh37
NC_000014.7:g.60185970G>T NCBI36
NG_008231.1:g.4939C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2436C>A
ENST00000554986.2:c.42-2922C>A ENSP00000452700.2:n.42-2922C>A
ENST00000555955.3:n.1197+2436C>A
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